CMTR Patient Resources
Charcot-Marie-Tooth and Related Neuropathies ConsortiumIntroduction
The CMTR consortium seeks to support patients affected by these diseases by disseminating research results and fostering a community of clinicians, scientists and patients working towards the common goal of developing novel therapeutics.
Please use this page as a resource for CMTR patients:
Please reach out with additional resources that should be included and ideas for resources that need to be developed. Contact information may be found on the CMTR Board of Directors page.
Disease Background
Charcot-Marie-Tooth disease (CMT), also called hereditary motor and sensory neuropathy (HSAN), is the most common CMTR disease with a prevalence of 1 in 2,500 individuals worldwide.
The CMTR umbrella includes all other inherited neuropathies and multisystem disorders with neuropathy:
- acute intermittent porphyria
- cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS)
- hereditary motor neuropathy (HMN)
- hereditary sensory neuropathy (HSN)
- hereditary sensory and autonomic neuropathy (HSAN)
- hereditary spastic paraplegia/paraparesis with neuropathy
- hereditary transthyretin polyneuropathy (hATTR)
- lysosomal storage disorders (i.e. Fabry disease, Krabbe disease, Sandhoff disease)
- mitochondrial neuropathies (i.e. MNGIE, SANDO, MCARNE)
- peroxisomal disorders (i.e. Refsum disease, adrenoleukodystrophy)
- spinocerebellar ataxias with neuropathy
Please reference the diagram below for common CMTR peripheral nerve symptoms and disease mechanisms and utilize these additional resources.
Disease Background Resources
- Charcot-Marie-Tooth Association: Several links throughout these pages.
- Genetic and Rare Diseases Information Center: Search by disease.
- Medline Plus: Search by disease.
- Muscular Dystrophy Association – CMT: Several links on the left-hand side of this page.
- National Institutes of Health CMT Fact Sheet
- National Organization for Rare Disorders – Rare Disease Database: Search by disease.
Diagnosis, Management and Treatment
Please access disease-specific symptoms and diagnosis information through the resources below. Standard diagnostic procedures likely include medical history questionnaire, neurological examination, electrodiagnostic studies (nerve conduction and electromyography) and genetic testing.
Hereditary transthyretin polyneuropathy (hATTR) is currently the only CMTR disease with FDA-approved treatments. All other CMTR diseases are managed with supportive care. Access disease-specific medical management information through the resources below.
Diagnosis, Management & Treatment Resources
- Amyloidosis Foundation: Symptoms, Diagnosis and Treatment sections.
- Amyloidosis Research Consortium: Symptoms, Diagnosis and Treatment sections.
- Charcot-Marie-Tooth Association: Living with CMT.
- Genetic and Rare Diseases Information Center: Search by disease.
- National Organization for Rare Disorders – Rare Disease Database: Search by disease.
Clinical Trials
Please use the following resources to find completed and ongoing disease-specific clinical trials. Access additional clinical trial information on several patient advocacy group websites listed below.
Patient Advocacy and Research Groups
Please access Patient Advocacy and Research Groups for CMTR diseases to learn about support and resources available for patients and research being funded by these organizations. Please reach out with additional groups that should be included. Contact information may be found on the CMTR Board of Directors page.
General Inherited Neuropathy Advocacy & Research Groups
- American Neuromuscular Foundation
- Asian Oceanic Inherited Neuropathy Consortium
- AFM-Telethon
- ASEM Federation
- Child Neurology Foundation
- European Alliance of Neuromuscular Disorders Associations
- European Federation of Neurological Associations
- European Reference Network for Neuromuscular Diseases
- Every Life Foundation
- Foundation for Peripheral Neuropathy
- German Society for Muscle Diseases
- Global Genes
- Hereditary Neuropathy Foundation
- Inherited Neuropathy Consortium
- Mobility India
- Muscle Diseases Flanders
- Muscle Diseases Netherlands
- Muscular Dystrophy Association
- Muscular Dystrophy Campaign
- Muscular Dystrophy Family Foundation
- Muscular Dystrophy Association of South Africa
- National Organization for Rare Disorders
- Organization for Rare Diseases India
- Rare Diseases Clinical Research Network
- Rare Diseases Europe
- Treat-NMD
Amyloidosis Advocacy & Research Groups
Ataxia Advocacy & Research Groups
Charcot-Marie-Tooth Advocacy & Research Groups
- ACMT-rete
- AICMT
- Charcot-Marie-Tooth Association
- Charcot Marie Tooth Association Australia
- Charcot-Marie-Tooth Romania
- Charcot-Marie-Tooth UK
- CMT4B3 Research Foundation
- CMT Austria
- CMT China
- CMT France
- CMT Friends Association
- CMT Israel
- CMT Japan
- CMT-NET
- CMT Research Foundation
- Cure CMT4J
- Engine of Your Steps
- European CMT Federation
- MFN2 Project
- Neuro Move CMT
- Wonderflora & CMT